ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2398G>T (p.Val800Phe)

gnomAD frequency: 0.00001  dbSNP: rs758697820
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521193 SCV000621673 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000687502 SCV000815072 uncertain significance Aortic aneurysm, familial thoracic 7 2022-09-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK protein function. ClinVar contains an entry for this variant (Variation ID: 452832). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 800 of the MYLK protein (p.Val800Phe).
Ambry Genetics RCV002431491 SCV002731481 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-12 criteria provided, single submitter clinical testing The p.V800F variant (also known as c.2398G>T), located in coding exon 14 of the MYLK gene, results from a G to T substitution at nucleotide position 2398. The valine at codon 800 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481738 SCV002792861 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-07-26 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000521193 SCV001749610 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-22-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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